Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085561 | SCV000771041 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000831462 | SCV000973211 | likely benign | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343340 | SCV002641620 | likely benign | Cardiovascular phenotype | 2019-03-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150322 | SCV003838417 | likely benign | Cardiomyopathy | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000831462 | SCV004699268 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BS1 |
Clinical Genetics, |
RCV001700288 | SCV001920721 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000831462 | SCV001929388 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000831462 | SCV001973017 | likely benign | not provided | no assertion criteria provided | clinical testing |